Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:48efe1.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
peer_reviewed
· published 2025-01-01
· live page
Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 + 1G > T, in the SMARCC2 gene.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Identification and functional analysis of a novel SMARCC2 splicing ... | pmc | 2025-01-01 | yesterday | 1.00 |